The different appearance of the oculodentodigital dysplasia syndrome.
We report on two families with the oculodentodigital (ODD) dysplasia syndrome, also called Meyer-Schwickerath syndrome. It represents a rare disorder characterized by eye and facial abnormalities causing a unique facial appearance. The phenotype of the young patients resembles those of identical twins. We found syndactyly mostly at the hands and, additionally, characteristic phalangeal aberrations, defects in teeth enamel, and trichosis. In the one family, the ODD dysplasia syndrome seemingly originated in a new mutation. The affected child was treated surgically in our clinic (syndactyly separation). In the other family, three patients (grandmother, mother, and granddaughter) were subjects of syndactyly separation. The aim of our surgeries was to separate the webbed fingers so there would be a normal spread and to improve the function and appearance of fingers. The ODD dysplasia syndrome correlates with the Hallermann-Streiff syndrome, or oculomandibulodyscephaly, which is characterized by a typical skull shape (brachicephaly with frontal brossing), a bird-like face, and eye abnormalities (congenital cataracts and microphthalmia).
Thomsen
M
M
Department of Pediatric Orthopedics, Orthopedic Surgery Hospital, University of Heidelberg, Germany.
Schneider
U
U
Weber
M
M
Niethard
F U
FU
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D009666:Nose / Q000002:abnormalities; D013576:Syndactyly / Q000235:genetics* / Q000601:surgery; D014071:Tooth Abnormalities / Q000235:genetics